rs72613567, HSD17B13

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Chronic liver disease
CUI: C0341439
Disease: Chronic liver disease
14 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.030 1.000 3 2019 2020
Liver carcinoma
CUI: C2239176
Disease: Liver carcinoma
942 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.030 1.000 3 2019 2020
Non-alcoholic Fatty Liver Disease
CUI: C0400966
Disease: Non-alcoholic Fatty Liver Disease
222 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.030 1.000 3 2019 2019
Cirrhosis
CUI: C1623038
Disease: Cirrhosis
110 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
Fatty Liver Disease
CUI: C4529962
Disease: Fatty Liver Disease
81 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
Liver Cirrhosis
CUI: C0023890
Disease: Liver Cirrhosis
189 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 1.000 2 2019 2020
Liver diseases
CUI: C0023895
Disease: Liver diseases
100 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.020 0.500 2 2019 2020
Adrenoleukodystrophy
CUI: C0162309
Disease: Adrenoleukodystrophy
116 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2019 2019
alcohol-related liver disease
CUI: C0810031
Disease: alcohol-related liver disease
2 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2019 2019
Alcoholic Liver Diseases
CUI: C0023896
Disease: Alcoholic Liver Diseases
20 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2019 2019
Fibrosis, Liver
CUI: C0239946
Disease: Fibrosis, Liver
64 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1 2019 2019
Hepatitis C
CUI: C0019196
Disease: Hepatitis C
347 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2019 2019
Nonalcoholic Steatohepatitis
CUI: C3241937
Disease: Nonalcoholic Steatohepatitis
17 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2018 2018
Steatohepatitis
CUI: C2711227
Disease: Steatohepatitis
75 0.742 0.320 4 87310240 splice donor variant -/A delins 0.22 0.010 1.000 1 2018 2018